Variant report

Variant	rs2238343
Chromosome Location	chr15:92703821-92703822
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU5F1	chr15:92703488-92703932	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr15:92703712-92704346	H1-hESC	embryonic stem cell:	n/a	n/a
3	EP300	chr15:92703437-92703909	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr15:92703517-92704199	H1-hESC	embryonic stem cell:	n/a	n/a
5	JUND	chr15:92703527-92704137	H1-hESC	embryonic stem cell:	n/a	chr15:92703859-92703873
6	SP1	chr15:92703364-92703931	H1-hESC	embryonic stem cell:	n/a	chr15:92703641-92703650 chr15:92703636-92703650
7	TCF12	chr15:92703481-92704081	H1-hESC	embryonic stem cell:	n/a	chr15:92704002-92704010 chr15:92703682-92703689
8	TCF12	chr15:92703108-92703893	H1-hESC	embryonic stem cell:	n/a	chr15:92703312-92703319 chr15:92703682-92703689
9	GTF2F1	chr15:92703707-92704150	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr15:92703439-92704242	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr15:92703192-92704170	H1-hESC	embryonic stem cell:	n/a	n/a
12	SP1	chr15:92703409-92704006	H1-hESC	embryonic stem cell:	n/a	chr15:92703641-92703650 chr15:92703636-92703650 chr15:92703986-92704000
13	TBP	chr15:92703546-92704150	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3A	chr15:92703436-92704114	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:92702907..92704729-chr15:92722855..92724927,2	K562	blood:

Variant related genes	Relation type
SLCO3A1	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10520703	0.90[CHB][hapmap];0.81[AMR][1000 genomes]
rs1060205	0.85[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs11631374	0.85[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs17645285	0.90[CHB][hapmap];0.81[AMR][1000 genomes]
rs17696379	0.95[CHB][hapmap];0.81[AMR][1000 genomes]
rs2238342	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2238345	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2238346	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2283455	0.90[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs2302085	0.80[CHB][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2387685	0.87[GIH][hapmap]
rs7176191	0.95[CHB][hapmap]
rs74028852	0.84[AFR][1000 genomes]
rs74028853	0.84[AFR][1000 genomes]
rs74028856	0.88[AFR][1000 genomes]
rs74028857	0.84[AFR][1000 genomes]
rs8033384	0.95[CHB][hapmap]
rs9788698	0.90[CHB][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948621	chr15:92688981-93158095	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv524871	chr15:92690548-92704180	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92645200-92705600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr15:92649200-92710800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr15:92664000-92707000	Weak transcription	Liver	Liver
4	chr15:92664000-92712000	Weak transcription	Psoas Muscle	Psoas
5	chr15:92666000-92704200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr15:92671600-92708000	Weak transcription	Gastric	stomach
7	chr15:92671800-92707800	Weak transcription	Colonic Mucosa	Colon
8	chr15:92671800-92709200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr15:92672000-92704200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr15:92674800-92707800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr15:92684000-92713200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr15:92684400-92713200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr15:92686400-92706800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr15:92686800-92707600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr15:92687400-92705000	Weak transcription	Colon Smooth Muscle	Colon
16	chr15:92687600-92719400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr15:92689600-92706400	Weak transcription	HSMMtube	muscle
18	chr15:92690400-92707800	Weak transcription	Pancreas	Pancrea
19	chr15:92690600-92714600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr15:92690800-92706800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:92690800-92707000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:92692800-92712400	Weak transcription	Fetal Muscle Leg	muscle
23	chr15:92692800-92715200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr15:92693200-92712600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:92693600-92707800	Weak transcription	Esophagus	oesophagus
26	chr15:92696000-92705800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr15:92696200-92706000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr15:92696200-92707800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:92696800-92705800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr15:92697400-92705800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:92697600-92704200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr15:92697600-92706000	Weak transcription	Fetal Stomach	stomach
33	chr15:92698600-92706400	Weak transcription	Primary T cells from cord blood	blood
34	chr15:92699000-92704600	Weak transcription	Spleen	Spleen
35	chr15:92699000-92711800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr15:92699200-92704600	Weak transcription	Thymus	Thymus
37	chr15:92699400-92704200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr15:92699800-92705200	Weak transcription	Right Ventricle	heart
39	chr15:92699800-92706000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:92700000-92705600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr15:92700000-92706000	Weak transcription	Ovary	ovary
42	chr15:92700200-92704600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr15:92700400-92705000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr15:92700400-92705000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr15:92700400-92705600	Weak transcription	Adipose Nuclei	Adipose
46	chr15:92700600-92705800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:92700600-92712600	Weak transcription	Aorta	Aorta
48	chr15:92700800-92704400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:92700800-92704600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr15:92700800-92705000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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